Canonical Allele Identifier: CA1555784499

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74722033G= , CM000667.2:g.74722033G= GRCh38
NC_000005.9:g.74017858G= , CM000667.1:g.74017858G= GRCh37
NC_000005.8:g.74053614G= NCBI36
NG_009770.1:g.41890G=
NG_011531.1:g.50185C=
NG_009770.2:g.87011G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.2212-250C= (GFM2) MANE Select ENSP00000296805.3:n.2212-250C=
ENST00000296805.7:c.2212-250C= (GFM2) ENSP00000296805.3:n.2212-250C=
ENST00000345239.6:c.2071-250C= (GFM2) ENSP00000296804.3:n.2071-250C=
ENST00000503312.5:c.609-436G= (HEXB)
ENST00000505859.1:c.256-266G= (HEXB)
ENST00000509430.5:c.2212-250C= (GFM2) ENSP00000427004.1:n.2212-250C=
ENST00000513867.1:n.381-266G= (HEXB)
ENST00000515125.5:n.615-250C= (GFM2)
NM_001281302.1:c.2308-250C= (GFM2) NP_001268231.1:n.2308-250C=
NM_032380.4:c.2212-250C= (GFM2) NP_115756.2:n.2212-250C=
NM_170691.2:c.2071-250C= (GFM2) NP_733792.1:n.2071-250C=
NR_104006.1:n.2531-250C= (GFM2)
XM_006714721.2:c.2077-250C= (GFM2) XP_006714784.1:n.2077-250C=
XM_011543690.1:c.2212-250C= (GFM2) XP_011541992.1:n.2212-250C=
XM_017009986.1:c.2212-250C= (GFM2) XP_016865475.1:n.2212-250C=
XR_002956185.1:n.3498-250C= (GFM2)
NM_032380.5:c.2212-250C= (GFM2) MANE Select NP_115756.2:n.2212-250C=
NM_001281302.2:c.2308-250C= (GFM2) NP_001268231.1:n.2308-250C=
NM_170691.3:c.2071-250C= (GFM2) NP_733792.1:n.2071-250C=
NR_104006.2:n.2277-250C= (GFM2)